ClinVar Miner

List of variants studied for Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_016474.5(CCDC174):c.472C>T (p.Pro158Ser) rs145180886 0.00107
NM_016474.5(CCDC174):c.86T>C (p.Phe29Ser) rs199752374 0.00020
NM_016474.5(CCDC174):c.1183G>C (p.Asp395His) rs367970098 0.00003
NM_016474.5(CCDC174):c.521G>T (p.Arg174Leu) rs138052160

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